Further Reading


Brady, R.O., Schiffmann, R. 2004. Enzyme-Replacement Therapy for Metabolic Storage Disorders. Lancet 3(12): 752-756.

Desnick, R.J., Ioannou, Y.A., Eng, C.M. 2000. Alpha-Galactosidase A deficiency: Fabry disease in the metabolic and molecular bases of inherited disease. pp. 3733-3769. Published by McGraw-Hill.

Desnick, R.J. et al. 2003. Fabry Disease: An under-recognized multisystemic disorder - expert recommendations for diagnosis, management and enzyme replacement therapy. Annals of Internal Medicine 138(4): 338-346.

Hoffman, B. 2009. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet Journal of Rare Diseases 4:21.

Icon Health Publications. 2002. The official parent's sourcebook on Fabry's Disease: A revised and updated directory for the internet age.

IPPOSI. 2009. Focus on rare diseases in Ireland: What is the national plan? Available at IPPOSI.

Yuri, A.Z., Hopkin, R.J. 2008. Fabry’s Disease. Lancet 372, Pages 1427 - 1435.

Zarate, Y.A., Hopkin R.J. 2008. Lysosomal Storage Disease: Fabry's Disease. Lancet 372:1427-35.






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